Journal article
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
Abstract
OBJECTIVE: We aimed to investigate the possible association between SCN2A mutations and early-onset epileptic encephalopathies (EOEEs).
METHODS: We recruited a total of 328 patients with EOEE, including 67 patients with Ohtahara syndrome (OS) and 150 with West syndrome. SCN2A mutations were examined using high resolution melt analysis or whole exome sequencing.
Authors
Nakamura K; Kato M; Osaka H; Yamashita S; Nakagawa E; Haginoya K; Tohyama J; Okuda M; Wada T; Shimakawa S
Journal
Neurology, Vol. 81, No. 11, pp. 992–998
Publisher
Wolters Kluwer
Publication Date
September 10, 2013
DOI
10.1212/wnl.0b013e3182a43e57
ISSN
0028-3878